ClinVar Miner

List of variants reported as benign for congenital anomaly of cardiovascular system by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_005751.5(AKAP9):c.5163-20G>A rs9785013 0.46162
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) rs1063243 0.42386
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) rs10236397 0.40488
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33792
NM_001148.6(ANK2):c.11673T>C (p.His3891=) rs2293324 0.30277
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=) rs3733615 0.27889
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=) rs10013743 0.12780
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_001148.6(ANK2):c.10888+20C>T rs35728190 0.10852
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=) rs33966911 0.07670
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210

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